Canonical Allele Identifier: CA2089983854
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48368619A= , CM000675.2:g.48368619A= GRCh38
NC_000013.10:g.48942755A= , CM000675.1:g.48942755A= GRCh37
NC_000013.9:g.47840756A= NCBI36
NG_009009.1:g.69873A= , LRG_517:g.69873A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1127+15A= MANE Select ENSP00000267163.4:n.1127+15A=
ENST00000650461.1:c.1127+15A= ENSP00000497193.1:n.1127+15A=
ENST00000267163.4:c.1127+15A= ENSP00000267163.4:n.1127+15A=
NM_000321.2:c.1127+15A= , LRG_517t1:c.1127+15A= NP_000312.2:n.1127+15A=
XM_011535171.1:c.866+15A= XP_011533473.1:n.866+15A=
XM_011535171.2:c.866+15A= XP_011533473.1:n.866+15A=
XR_002957522.1:n.122-3643T=
NM_000321.3:c.1127+15A= MANE Select NP_000312.2:n.1127+15A=
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